C500R (p.Cys500Arg) variant of F11 (Coagulation factor XI)
C500R (p.Cys500Arg) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Plasma factor XI deficiency. The record also includes population frequency data and structural context.
C500R (p.Cys500Arg) variant details
- p.Cys500Arg
- gnomAD rs1284110762
- Likely pathogenic
- Plasma factor XI deficiency
- Missense
- ClinVar: Likely pathogenic (Plasma factor XI deficiency)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available